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Faulty gene discovered that could lead to heart failure

A recent study has shown that around one per cent of the population carry a faulty gene which could predispose otherwise healthy people to heart failure, especially if the heart is put under stress.

The research, which was published in Nature Genetics, involved a large team of international collaborators, and was co-led by Trust honorary consultant cardiologist James Ware. It involved groups from the UK – including Imperial College and the MRC Clinical Sciences Centre – as well as Singapore and Germany, and was part-funded by the Wellcome Trust, the British Heart Foundation, and the NIHR Royal Brompton Biomedical Research Unit.

The team previously discovered found that a faulty version of a gene called titin can cause an important inherited heart condition called dilated cardiomyopathy, in which the heart's ability to pump blood is decreased because its main pumping chamber is enlarged and weakened. This can run in families, and can cause sudden life-threatening heart rhythm problems or gradual heart failure.

In this study, they first looked at rats with a similar faulty version of this gene and found that although they appeared healthy, placing stress on their hearts triggered heart failure.

Researchers then looked at the genes of 1,400 healthy adult volunteers and created detailed 3D computer models of their hearts using scans. This revealed that one per cent of the volunteers had a titin gene mutation, and though they did not have dilated cardiomyopathy, they did have larger hearts with reduced pump function. The researchers believe that these individuals have an increased risk of heart failure when the heart is stressed, such as during pregnancy. Further research is now being carried out to better understand which genetic factors or environmental triggers may put people with titin mutations at risk of heart failure.

Dr Ware said, “For patients with dilated cardiomyopathy, this study has improved our understanding of the disease, revealed possible new targets for drugs and other new therapies, and importantly has improved our ability to diagnose the condition confidently with genetic tests.

“The fact that this project was an international collaboration was important as we were able to study many more patients than we could see at any one centre. This will be crucial as we move onto the next phase – to identify why some people with these mutations seem to do well in the long term while others do not, and find out exactly what genetic factors or environmental triggers bring on heart failure in this group.”

The Trust runs a comprehensive service for people with inherited cardiovascular conditions, such as dilated cardiomyopathy, including genetic testing to find out if family members are at risk of developing the same condition as their relatives.